Phenotypes associated with this allele

• Allele Symbol: Abcb7^tm1Mdf
• Allele Name: targeted mutation 1, Mark D Fleming
• Allele ID: MGI:3628654
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Abcb7^tm1Mdf/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	either: B6.Cg-Edil3^Tg(Sox2-cre)1Amc Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * CBA)	MGI:3629061
cn2	Abcb7^tm1Mdf/Abcb7^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	either: B6.Cg-Edil3^Tg(Sox2-cre)1Amc Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * CBA)	MGI:3629062
cn3	Abcb7^tm1Mdf/Y Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	either: B6.Cg-Speer6-ps1^Tg(Alb-cre)21Mgn Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * DBA)	MGI:3629066
cn4	Abcb7^tm1Mdf/Y Tg(Nes-cre)1Kln/0	either: B6.Cg-Tg(Nes-cre)1Kln Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * SJL)	MGI:3629065
cn5	Abcb7^tm1Mdf/Y Tg(Gata1-cre)1Sho/0	either: (involves: 129S4/SvJae * 129S6/SvEvTac * FVB/N) or (involves: 129S4/SvJae * C57BL/6J * FVB/N)	MGI:3629058
cn6	Abcb7^tm1Mdf/Abcb7^+ Tg(Gata1-cre)1Sho/0	either: (involves: 129S4/SvJae * 129S6/SvEvTac * FVB/N) or (involves: 129S4/SvJae * C57BL/6J * FVB/N)	MGI:3629059
cn7	Abcb7^tm1Mdf/Abcb7^+ Tg(Vil1-cre)20Syr/0	either: (involves: 129S4/SvJae * C57BL/6 * DBA/2) or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * DBA/2)	MGI:3629064
cn8	Abcb7^tm1Mdf/Y Tg(Vil1-cre)20Syr/0	either: (involves: 129S4/SvJae * C57BL/6 * DBA/2) or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * DBA/2)	MGI:3629063

Genotype
MGI:3629061

cn1

• Allelic Composition: Abcb7^tm1Mdf/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: either: B6.Cg-Edil3^{Tg(Sox2-cre)1Amc} Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * CBA)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:106838 )

♂ • die at E7.5 - E8.5

Genotype
MGI:3629062

cn2

• Allelic Composition: Abcb7^tm1Mdf/Abcb7⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: either: B6.Cg-Edil3^{Tg(Sox2-cre)1Amc} Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * CBA)

mortality/aging

mortality/aging ( J:106838 )

♀N • females are viable

Genotype
MGI:3629066

cn3

• Allelic Composition: Abcb7^tm1Mdf/Y; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: either: B6.Cg-Speer6-ps1^{Tg(Alb-cre)21Mgn} Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * DBA)

cellular

abnormal hepatocyte mitochondrial morphology ( J:106838 )

• pale, swollen mitochondria

liver/biliary system

abnormal liver morphology ( J:106838 )

♂ • mild hepatic architectural disarray and hepatocellular multinucleation are seen

abnormal hepatocyte morphology ( J:106838 )

♂ • many cytosolic lipid droplets and pale swollen mitochondria are seen suggesting metabolic or mitochondrial damage

♂ • multinucleated hepatocytes are seen

abnormal hepatocyte mitochondrial morphology ( J:106838 )

• pale, swollen mitochondria

homeostasis/metabolism

abnormal circulating enzyme level ( J:106838 )

♂ • 2-fold increase in serum levels of liver-derived transaminases indicative of liver damage

hemosiderosis ( J:106838 )

♂ • 76% increase in total liver iron; however, serum iron and total iron binding capacity are similar to controls and no signs of mitochondrial iron overload are detected

♂ • a small subset of hepatocytes particularly cells adjacent to a portal triad or central vein, contain abundant, coarsely granular cytosolic iron deposits

abnormal enzyme/coenzyme activity ( J:106838 )

♂ • 50% reduction in hepatic activity of xanthine oxidase; however no change in expression is detected

♂ • about a 20% decrease in hepatic mitochondrial activity of succinate dehydrogenase when normalized to cytochrome C oxidase activity

♂ • about a 90% and 60% decrease in cytosolic aconitate hydratase 1 (Aco1) activity and protein, respectivly, are seen in the liver

Genotype
MGI:3629065

cn4

• Allelic Composition: Abcb7^tm1Mdf/Y; Tg(Nes-cre)1Kln/0
• Genetic Background: either: B6.Cg-Tg(Nes-cre)1Kln Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * SJL)

mortality/aging

postnatal lethality, complete penetrance ( J:106838 )

♂ • none are found at weaning

neonatal lethality, incomplete penetrance ( J:106838 )

♂ • only 4.3% of pups rather than the expected 12.5% are found at P1

nervous system

nervous system phenotype ( J:106838 )

♂N • no gross brain abnormalities are detected

Genotype
MGI:3629058

cn5

• Allelic Composition: Abcb7^tm1Mdf/Y; Tg(Gata1-cre)1Sho/0
• Genetic Background: either: (involves: 129S4/SvJae * 129S6/SvEvTac * FVB/N) or (involves: 129S4/SvJae * C57BL/6J * FVB/N)

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:106838 )

♂ • die at or before E6.5 - E7.5; however no excessive iron deposition is seen

embryo

embryonic growth retardation ( J:106838 )

♂ • slightly growth retarded

abnormal ectoplacental cone morphology ( J:106838 )

♂ • hemorrhage and fibrin in the region of the ectoplacental cone

growth/size/body

embryonic growth retardation ( J:106838 )

♂ • slightly growth retarded

cardiovascular system

hemorrhage ( J:106838 )

♂ • around the ectoplacental cone

Genotype
MGI:3629059

cn6

• Allelic Composition: Abcb7^tm1Mdf/Abcb7⁺; Tg(Gata1-cre)1Sho/0
• Genetic Background: either: (involves: 129S4/SvJae * 129S6/SvEvTac * FVB/N) or (involves: 129S4/SvJae * C57BL/6J * FVB/N)

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:106838 )

♀ • die at or before E6.5 - E7.5; however no excessive iron deposition is seen

embryo

embryonic growth retardation ( J:106838 )

♀ • slightly growth retarded

abnormal ectoplacental cone morphology ( J:106838 )

♀ • hemorrhage and fibrin in the region of the ectoplacental cone

growth/size/body

embryonic growth retardation ( J:106838 )

♀ • slightly growth retarded

cardiovascular system

hemorrhage ( J:106838 )

♀ • around the ectoplacental cone

Genotype
MGI:3629064

cn7

• Allelic Composition: Abcb7^tm1Mdf/Abcb7⁺; Tg(Vil1-cre)20Syr/0
• Genetic Background: either: (involves: 129S4/SvJae * C57BL/6 * DBA/2) or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * DBA/2)

mortality/aging

prenatal lethality, complete penetrance ( J:106838 )

♀

Genotype
MGI:3629063

cn8

• Allelic Composition: Abcb7^tm1Mdf/Y; Tg(Vil1-cre)20Syr/0
• Genetic Background: either: (involves: 129S4/SvJae * C57BL/6 * DBA/2) or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * DBA/2)

mortality/aging

prenatal lethality, complete penetrance ( J:106838 )

♂